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      Feocromocitoma maligno metastásico extraadrenal con una diseminación atípica. Reporte de un caso Translated title: Extraadrenal metastatic malignant pheochromocytoma with atypical metastasis. Case report

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          Abstract

          Resumen El feocromocitoma es un tumor de células cromafines que se considera poco frecuente. Aproximadamente el 10% son malignos y el 90% benignos, su comportamiento está determinado por la invasión local y la presencia de metástasis a distancia. Se presenta un caso de feocromocitoma extraadrenal maligno con metástasis en el esternón y otras estructuras óseas, tras 29 años de una nefrectomía derecha por esta enfermedad, a nivel del cuerpo del 1.er hueso costal izquierdo y el cuerpo de la 2.a vértebra cervical, huesos de la bóveda craneana y la porción superior del esternón, evidenciando el comportamiento atípico y raro de diseminación.

          Translated abstract

          Abstract Pheochromocytoma is a chromaffin cell tumor that is considered rare. Approximately 10% are malignant and 90% benign, their behavior is determined by local invasion and the presence of distant metastases. We present a case of malignant extraadrenal pheochromocytoma with metastases to the sternum and other bone structures, after 29 years of a right nephrectomy for this disease, at the level of the body of the 1st left rib bone and the body of the 2nd cervical vertebra, bones of the cranial vault and the upper portion of the sternum, evidencing the atypical and unusual behavior of dissemination.

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          Most cited references14

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          AJCC Cancer Staging Manual

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            Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.

            We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine.
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              Neurofibromatosis type 1.

              Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is a neurogenetic disorder distinct from neurofibromatosis type 2 (NF2). Approximately 1:2500 to 1:3500 individuals worldwide are affected, regardless of ethnicity or race. The classic manifestations of NF1 include café-au-lait macules, skinfold freckling, neurofibromas, brain tumors, iris hamartomas, and characteristic bony lesions. In addition, patients with NF1 are at increased risk for learning and intellectual disabilities, aqueductal stenosis, pheochromocytoma, vascular dysplasia, scoliosis, and cancer. In this chapter, we discuss the clinical and molecular features of NF1 as well as how insights into its underlying molecular pathophysiology have revealed new targets for therapeutic drug design.
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                Author and article information

                Journal
                gamo
                Gaceta mexicana de oncología
                Gac. mex. oncol.
                Sociedad Mexicana de Oncología A.C. (Ciudad de México, Ciudad de México, Mexico )
                1665-9201
                2565-005X
                2021
                : 20
                : suppl 1
                : 79-84
                Affiliations
                [2] Buenos Aires orgnameUniversidad de Buenos Aires orgdiv1Facultad de Ciencias Exactas y Naturales orgdiv2IQUIBICEN CONICET-UBA Argentina
                [1] La Habana orgnameHospital Hermanos Ameijeiras orgdiv1Servicio de Oncología Clínica Cuba
                Article
                S2565-005X2021000500079 S2565-005X(21)02000000079
                10.24875/j.gamo.20000175
                68371595-2fc6-48e6-828f-0d0866b8b3b3

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

                History
                : 27 August 2020
                : 02 August 2020
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 14, Pages: 6
                Product

                SciELO Mexico

                Categories
                Casos clínicos

                Feocromocitoma,Feocromocitoma maligno,Metástasis vertebral,Pheochromocytoma,Malignant pheochromocytoma,Vertebral metastasis

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